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Demir E, Sabatelli P, Allamand V, et al. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet. 2002;70(6):1446-58doi: 10.1086/340608.
Demir, E., Sabatelli, P., Allamand, V., Ferreiro, A., Moghadaszadeh, B., Makrelouf, M., Topaloglu, H., Echenne, B., Merlini, L., & Guicheney, P. (2002). Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. American journal of human genetics, 70(6), 1446-58. https://doi.org/10.1086/340608
Demir, Ercan, et al. "Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy." American journal of human genetics vol. 70,6 (2002): 1446-58. doi: https://doi.org/10.1086/340608
Demir E, Sabatelli P, Allamand V, Ferreiro A, Moghadaszadeh B, Makrelouf M, Topaloglu H, Echenne B, Merlini L, Guicheney P. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet. 2002 Jun;70(6):1446-58. doi: 10.1086/340608. Epub 2002 Apr 24. PMID: 11992252; PMCID: PMC419991.
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